Source: ALL
Variant Gene N. diseases v DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs772037717
rs772037717
FBXL4
8 0.882 0.080 6 98875675 missense variant A/G snv 1.2E-05 1.4E-05 0.700 1.000 1 2016 2016
dbSNP: rs1559662068
rs1559662068
BRPF1
10 0.925 3 9741340 frameshift variant AG/T delins 0.700 0
dbSNP: rs1064795760
rs1064795760
BICD2
14 0.882 0.080 9 92719007 inframe deletion ATT/- del 0.700 0
dbSNP: rs61750420
rs61750420
PEX1
52 0.689 0.480 7 92501562 missense variant C/T snv 3.2E-04 3.5E-04 0.700 0
dbSNP: rs1554817910
rs1554817910
ZMIZ1
4 1.000 10 79216266 missense variant A/G snv 0.700 1.000 1 2019 2019
dbSNP: rs1345176461
rs1345176461
IRF2BPL ; LOC107984638
40 0.716 0.240 14 77027231 stop gained G/A;T snv 4.3E-06 0.700 0
dbSNP: rs771409809
rs771409809
WFS1
19 0.732 0.480 4 6301794 stop gained C/T snv 6.0E-05 7.0E-06 0.700 0
dbSNP: rs1563595095
rs1563595095
CHD7
10 0.776 0.320 8 60781285 frameshift variant AA/T delins 0.700 0
dbSNP: rs200661329
rs200661329
PIGQ
48 0.708 0.440 16 576255 splice donor variant G/A;C snv 5.7E-05 0.700 0
dbSNP: rs75184679
rs75184679
RNASEH2B
16 0.776 0.360 13 50945445 missense variant G/A snv 1.4E-03 1.4E-03 0.700 0
dbSNP: rs1559931177
rs1559931177
QRICH1
34 0.827 0.120 3 49047207 stop gained G/A snv 0.700 0
dbSNP: rs1554389088
rs1554389088
CAMK2B
27 0.807 0.160 7 44243526 missense variant G/A snv 0.700 1.000 1 2017 2017
dbSNP: rs527624522
rs527624522
EXT2
5 0.925 0.080 11 44107723 missense variant C/T snv 6.4E-05 2.1E-05 0.700 0
dbSNP: rs786200952
rs786200952
KAT6A
13 0.851 0.120 8 41934340 frameshift variant -/T delins 0.700 1.000 1 2015 2015
dbSNP: rs1114167294
rs1114167294
FOXP4
4 0.925 6 41587455 frameshift variant T/- del 0.700 0
dbSNP: rs1554317002
rs1554317002
CDK13 ; LOC112267983
45 0.724 0.440 7 39950821 frameshift variant C/- delins 0.700 0
dbSNP: rs397517159
rs397517159
SOS1
4 0.882 0.200 2 39007168 missense variant C/T snv 0.700 1.000 3 2007 2007
dbSNP: rs587784347
rs587784347
PLA2G6
38 0.742 0.280 22 38113561 missense variant G/A snv 8.0E-06 0.700 0
dbSNP: rs724159953
rs724159953
DYRK1A
7 1.000 21 37505352 stop gained C/T snv 0.700 0
dbSNP: rs724159956
rs724159956
DYRK1A
6 21 37496249 frameshift variant -/G delins 0.700 0
dbSNP: rs724159951
rs724159951
DYRK1A
6 21 37493101 missense variant T/C snv 0.700 0
dbSNP: rs724159952
rs724159952
DYRK1A ; LOC105372797
6 21 37490451 frameshift variant -/G delins 0.700 0
dbSNP: rs724159954
rs724159954
DYRK1A ; LOC105372797
6 21 37490353 frameshift variant -/A delins 0.700 0
dbSNP: rs724159948
rs724159948
DYRK1A ; LOC105372797
7 1.000 21 37490273 stop gained C/T snv 0.700 0
dbSNP: rs724159950
rs724159950
DYRK1A ; LOC105372797
6 1.000 0.200 21 37486571 frameshift variant TGAG/GAA delins 0.700 0